Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature

Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminatedMycobacterium lentiflavuminfection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology.

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Primary laryngeal T-cell lymphoma: A case report and review of the literature

International Journal of Surgery Case Reports ◽

10.1016/j.ijscr.2021.105858 ◽

2021 ◽

Vol 82 ◽

pp. 105858

Author(s):

K. Chaker ◽

M. Beghdad ◽

M.A. Mennouni ◽

A. Mkhatri ◽

Y. Oukessou ◽

...

Keyword(s):

Case Report ◽

T Cell ◽

Cell Lymphoma ◽

T Cell Lymphoma ◽

Review Of The Literature

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Primary vitreoretinal natural killer/T-cell lymphoma with breast involvement: A case report and review of the literature

Survey of Ophthalmology ◽

10.1016/j.survophthal.2018.10.003 ◽

2019 ◽

Vol 64 (2) ◽

pp. 225-232 ◽

Cited By ~ 1

Author(s):

Shuang Gao ◽

Yingming Zhou ◽

Xiaolong Jin ◽

Zhongjing Lin ◽

Yisheng Zhong ◽

...

Keyword(s):

Case Report ◽

T Cell ◽

Natural Killer ◽

Cell Lymphoma ◽

T Cell Lymphoma ◽

Review Of The Literature ◽

Natural Killer T Cell ◽

Killer T Cell ◽

Natural Killer T

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Case report: T-cell responses during clearance of andes virus from blood cells 2 months after severe hantavirus cardiopulmonary syndrome

Journal of Medical Virology ◽

10.1002/jmv.21302 ◽

2008 ◽

Vol 80 (11) ◽

pp. 1947-1951 ◽

Cited By ~ 7

Author(s):

Tobias Manigold ◽

Jessica Martinez ◽

Ximena Lazcano ◽

Chunyan Ye ◽

Shaina Schwartz ◽

...

Keyword(s):

Case Report ◽

T Cell ◽

Blood Cells ◽

T Cell Responses ◽

Cell Responses ◽

Andes Virus

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PD-L1 – PD-1 interactions limit effector Treg cell populations at homeostasis and during infection

10.1101/2020.12.09.416990 ◽

2020 ◽

Author(s):

J.A. Perry ◽

J.T. Clark ◽

J. Gullicksrud ◽

J. DeLong ◽

L. Shallberg ◽

...

Keyword(s):

T Cell ◽

Treg Cell ◽

Cell Activity ◽

T Cell Responses ◽

Treg Cells ◽

Whole Body ◽

Cell Responses ◽

Early Production ◽

Ifn Γ ◽

Specific Deletion

AbstractWhile much is known about the factors that promote the development of diverse Treg cell responses, less is known about the pathways that constrain Treg cell activities. The studies presented here reveal that at homeostasis there is a population of effector Treg cells that express PD-1, and that blockade of PD-L1 or loss of PD-1 results in increased Treg cell activity. In response to infection with the parasite T. gondii, the early production of IFN-γ results in widespread upregulation of PD-L1. Moreover, blockade of PD-L1, whole body deletion of PD-1, or lineage-specific deletion of PD-1 in Foxp3+ cells prevented the loss of the effector Treg cells but resulted in reduced pathogen specific CD4+ T cell responses during infection. Thus, at homeostasis basal PD-L1 expression constrains and tunes the pool of Treg cells, but during infection the upregulation of PD-L1 provides a mechanism to contract the Treg cell population required to maximize the development of pathogen specific CD4+ T cell responses.

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